CAMPAÑA #DALESVOZ 2015 Iniciamos nuestra campaña #dalesvoz, una campaña muy especial porque ha llegado el momento de que nuestro compromiso llegue cada vez a más personas. Y para ello nos han prestado su voz grandes amigos del mundo de la canción, el humor, el periodismo… para hacer este vídeo que queremos que llegue lo más lejos posible. Ayúdanos a conseguir que se nos oiga en todo el mundo compartiendo el vídeo y nuestras páginas www.22q13.org.es y www.soyunheroe.com. ¡Nuestros niños necesitan tu ayuda! Infinitamente agradecido a nuestro creador de sueños músico y compositor Christian de Hugo y a su realizador Miguel Ángel Pascual de Fotogramavivo y a tantas personas que han hecho que esta campaña se haga realidad. Todos juntos #dalesvoz”
The Phelan-McDermid Syndrome, or chromosome 22q13 deletion syndrome, is a genetic disorder classified as a rare disease. In most cases it is caused by the loss of genetic material from the terminal segment of chromosome 22. This loss occurs during the cell division, when the chromosomes line up and replication occurs and some of them break off and get lost.
A common feature among those affected by the syndrome is the loss or mutation of the SHANK3 gene. The loss of this gene means those affected suffer developmental delays in various areas, particularly the ability to speak. This mutation tends to appear spontaneously, meaning it is not inherited from either parent.
Most common features.
- Every case is different, given that different amounts and/or different parts of the genetic code are lost in each case. This means it is extremely difficult to know how a specific child will be affected and the degree of severity, although there are some common features.
- Varying degrees of intellectual disability.
- Developmental disorders. More than 75% of patients have the following characteristics: Normal or accelerated growth, large fleshy hands, dysplastic toenails, decreased perception of pain, mouthing or chewing non-food items.
- Absent or severely delayed speech.
- Symptoms of autism or Autism Spectrum Disorder
Other characteristics include:
- Dolichocephaly, large or prominent ears, puffy cheeks and eyelids, deep-set eyes, flat mid-face, wide nasal bridge, bulbous nose, pointed chin, decreased perspiration and tendency to overheat and to have eating difficulties.
- Other less frequent problems: Strabismus, malocclusion, high-arched palate, gastroesophageal reflux, renal problems and seizures.
More common medical problems
Dilation of cerebral ventricles. Regulation of abnormal body temperature
Recurrent ear infections
Absent to severely delayed speech
Living with 22q13
As a parent you dream about bringing up your children, watching them grow up and teaching them all you know. Then you discover that your child has a rare chromosome disorder and everything changes.
You dream that one day your child will be able to walk and one day they can. With great difficulty, but they manage it. You dream that your child will call you Mum and after years of hard work, they can. Then you dream that they will be able to eat without help, use the toilet, climb stairs or even tell you where it hurts...some dreams come true while others do not.
Meanwhile, days go by with speech therapy to make sure your child does not forget how to say “Mum“, physical therapy to make sure their muscles are kept strong enough to walk and yet the uncertainty continues in terms of what your child needs, because they are unable to tell you. Are they hot or thirsty, does something hurt or are they happy? All this requires every last ounce of your attention.
As a parent you always worry about your child. In addition to the normal concerns of parents, there is the constant uncertainty about your child’s health, the disruptive behaviour, the lack of understanding and the loneliness that comes with rare diseases...
Another factor is the uncertainty concerning the real consequences of the Syndrome, as a result of a deep lack of knowledge about its development and future.
Living with 22q13 means learning that one small step, as insignificant as it may seem to others, requires a great deal of work and is one very big step for us. These are small signs that fill us with hope for the future.
See full testimonial
One of the main problems involved with the syndrome is hypotonia (low muscle tone or floppiness). Physical therapy strengthens muscle tone and can help children to walk and improve their coordination.
- Massage therapy for babies: stimulates the baby’s central nervous system and has a calming effect, helping the child to develop their own body scheme.
- Psychomotor development: works on muscle tone, posture and balance. Motor-skill development is closely linked to psychological development and psychomotor development works both aspects by developing motor skills and encouraging psychological and social development.
- Hydrotherapy and swimming: improves muscle tone, lymphoedema and relaxation.
- Equine therapy and therapeutic horse riding: being around horses stimulates the child physically, psychologically and socially as horses transmit warmth, rhythm and movement patterns, etc. The objectives are psychological, communication and psychomotor stimulation.
Speech is the most problematic developmental area and therefore the one which requires most attention. Those affected by the Syndrome have severe learning difficulties and quickly forget things without the correct help. There is no universal therapy, since it has to be adapted to the possibilities of each child in order to facilitate their communication.
- Speech therapist: if the child manages to speak, a speech therapist will work on a vocabulary with the child and try to prevent regressions where the child can forget what has been learnt so far or even lose the ability to speak all together.
- Sign language: this therapy depends on the degree of the loss, and since it requires fine motor skills, not all children are able to communicate properly with signs.
- PECS system: children are normally able to communicate their basic needs via pictures, photographs or pictograms. Electronic devices such as tablets or iPads tend to be very useful.